Understanding vision loss in patients with LCHAD deficiency
The Natural History of LCHAD Retinopathy
This study is looking at how a condition called chorioretinopathy affects vision in people with LCHAD deficiency, and it aims to find out what factors influence eye health and how diet might help, so we can better support patients like you.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Oregon Health & Science University NIH-funded |
| Lab location | 1 site (Portland, United States) |
| Project ID | NIH-10745928 on NIH RePORTER |
What this research studies
This research investigates the progression of chorioretinopathy, a vision-threatening condition, in patients with Long-chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) deficiency. By following a cohort of 44 patients over time, the study aims to identify clinical and physiological factors that contribute to retinal changes and vision loss. The approach includes detailed assessments of retinal health and the impact of dietary therapies on disease progression. This prospective study seeks to deepen our understanding of how LCHAD deficiency affects vision and to improve patient care.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with LCHAD or mitochondrial trifunctional protein deficiencies.
Not a fit: Patients without a diagnosis of LCHAD or TFP deficiencies may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better management strategies for vision loss in patients with LCHAD deficiency.
How similar studies have performed: While there has been research on fatty acid oxidation disorders, the specific focus on LCHAD-related retinopathy is relatively novel and underexplored.
Where this research is happening
Portland, United States
- Oregon Health & Science University — Portland, United States (Active)
Researchers
- Principal investigator: Gillingham, Melanie B — Oregon Health & Science University
- Study coordinator: Gillingham, Melanie B
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.